Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Abstract Background the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varyi...

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Main Authors: Silvia Castiglioni, Laura Pezzoli, Lidia Pezzani, Antonella Lettieri, Elisabetta Di Fede, Anna Cereda, Silvia Ancona, Andrea Gallina, Elisa Adele Colombo, Chiara Parodi, Paolo Grazioli, Esi Taci, Donatella Milani, Maria Iascone, Valentina Massa, Cristina Gervasini
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PPP3CA
calcineurin
DEE-91
LCLs
UPS
Online Access:https://doi.org/10.1186/s13023-024-03507-0
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